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Title: Signatures of human European Paleolithic expansion shown by resequencing of nonrecombining X-chromosome segments
Authors: Maisano Delser, Pierpaolo
Neumann, Rita
Ballereau, Stéphane
Hallast, Pille
Batini, Chiara
Zadik, Daniel
Jobling, Mark A.
First Published: 25-Jan-2017
Publisher: Nature Publishing Group for European Society of Human Genetics
Citation: European Journal of Human Genetics, 2017, 25, pp. 485-492
Abstract: Human genetic diversity in Europe has been extensively studied using uniparentally-inherited sequences (mitochondrial DNA [mtDNA] and the Y chromosome), which reveal very different patterns indicating sex-specific demographic histories. The X chromosome, haploid in males and inherited twice as often from mothers as from fathers, could provide insights into past female behaviours, but has not been extensively investigated. Here, we use HapMap SNP data to identify genomewide segments of the X chromosome in which recombination is historically absent and mutations are likely to be the only source of genetic variation, referring to these as Phylogeographically informative Haplotypes on Autosomes and X chromosome (PHAXs). Three such sequences on the X chromosome spanning a total of ~49 kb were resequenced in 240 males from Europe, the Middle East and Africa at an average coverage of 181 ×. These PHAXs were confirmed to be essentially non-recombining across European samples. All three loci show highly homogeneous patterns across Europe and are highly differentiated from the African sample. Star-like structures of European-specific haplotypes in median-joining networks indicate past population expansions. Bayesian skyline plots and time-to-most-recent-common-ancestor estimates suggest expansions pre-dating the Neolithic transition, a finding that is more compatible with data on mtDNA than the Y chromosome, and with the female bias of Xchromosomal inheritance. This study demonstrates the potential of the use of Xchromosomal haplotype blocks, and the utility of the accurate ascertainment of rare variants for inferring human demographic history.
DOI Link: 10.1038/ejhg.2016.207
ISSN: 1018-4813
eISSN: 1476-5438
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © the author(s) 2017. This is an open-access article distributed under the terms of the Creative Commons Attribution License ( ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Appears in Collections:Published Articles, Dept. of Genetics

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